title: [Hemoglobin Stanleyville II [alpha78(EF7)Asn --> Lys]. First case described in Spain].
abstract: OBJECTIVE
  Structural hemoglobinopathies are the result of mutations in the genes of globin, which determine a qualitative alteration in the expression of these genes. Most alterations do not originate any significant change, and correspond to silent or asymptomatic forms. This study proves a new case of hemoglobin (Hb) Stanleyville II.
  
  
  METHODS
  The propositus was a 72 years old Caucasian woman, from the Canary Islands. Her hematological data were: Hb 14.3 g/dl; hematocrit 44.4%; mean corpuscular volume 85.8 fl; mean corpuscular hemoglobin 27.7 pg; red cell distribution width 15.1%; reticulocytes 1.2%; HbA2 3.1% and HbF 1.6%. Electrophoretic studies in cellulose acetate electrophoresis at alkaline pH = 8.6 and isoelectrofocusing showed an anomalous Hb similar to HbS. The anomalous Hb did not appear in agar citrate electrophoresis (pH 6.0). The analysis by reverse phase high performance liquid chromatography for globin chains showed an X anomalous after A.
  
  
  RESULTS
  Molecular analysis by sequentiation of the polymerase chain reaction products genes 1 and 2 showed the mutation AAC --> AAA at CD78 of second gene 2 in heterozygote state, which leads the change of asparagine to lysine.
  
  
  CONCLUSIONS
  The substitution of an amino acid with neutral charge like asparagine for another one with positive charge like lysine in the segment EF, which corresponds to the external surface of the tertiary structure of the chain of globin, determines the change of charge in the chain. This allows an easy differentiation by electrophoretic and chromatographic methods. Nevertheless, owing to its position in the chain, which is not critique for the stability, solubility and affinity for the oxygen allows for silent or asymptomatic forms. The Hb Stanleyville II had been described before in black families of the Congo, Uganda, USA, Alsace and Brazil. This case represents the first case described in Spain.
authors.affiliation: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, Spain. fgonzalezf@aehh.org
authors.forename: Fernando Ataúlfo
authors.initials: FA
authors.lastname: González
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Silvia
authors.initials: S
authors.lastname: de la Iglesia
authors.forename: Marta
authors.initials: M
authors.lastname: Polo
authors.forename: Celina
authors.initials: C
authors.lastname: Benavente
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
mesh_terms: D000368:Aged; D005260:Female; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans
chemical_list: D006455:Hemoglobins, Abnormal; C037389:hemoglobin Stanleyville II